Variant report

Variant	rs7534948
Chromosome Location	chr1:176028721-176028722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10218714	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10436856	0.80[AMR][1000 genomes]
rs10494495	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10494498	0.80[EUR][1000 genomes]
rs10753112	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10753117	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10753118	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798422	0.80[AMR][1000 genomes]
rs10798425	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10798434	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10798442	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10798444	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798446	0.81[EUR][1000 genomes]
rs10913116	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913117	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913120	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913124	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10913131	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913132	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913133	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10913134	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10913135	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10913137	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913142	0.82[EUR][1000 genomes]
rs10913143	0.81[EUR][1000 genomes]
rs10913144	0.82[EUR][1000 genomes]
rs10913145	0.82[EUR][1000 genomes]
rs10913147	0.80[EUR][1000 genomes]
rs10913148	0.80[EUR][1000 genomes]
rs11810706	0.81[ASN][1000 genomes]
rs12029090	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12033847	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12033976	0.80[AMR][1000 genomes]
rs12033997	0.81[EUR][1000 genomes]
rs12034255	0.82[EUR][1000 genomes]
rs12049077	0.80[EUR][1000 genomes]
rs12404596	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12735810	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17351562	0.80[AMR][1000 genomes]
rs17354120	0.83[EUR][1000 genomes]
rs2861672	0.82[EUR][1000 genomes]
rs34511428	0.81[EUR][1000 genomes]
rs34973462	0.81[ASN][1000 genomes]
rs4409605	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6678628	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6678812	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6684140	0.81[EUR][1000 genomes]
rs6688898	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6703511	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7514517	0.83[EUR][1000 genomes]
rs7515914	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7517503	0.82[EUR][1000 genomes]
rs7522843	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7534058	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7553759	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
3	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
6	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
7	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
10	chr1:176006200-176049000	Weak transcription	HSMM	muscle
11	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
12	chr1:176010200-176048000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:176012200-176044800	Weak transcription	Fetal Stomach	stomach
15	chr1:176012200-176045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:176012200-176045200	Weak transcription	Esophagus	oesophagus
17	chr1:176012200-176045200	Weak transcription	Fetal Lung	lung
18	chr1:176012400-176029200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:176012400-176036400	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:176012400-176036400	Weak transcription	Gastric	stomach
21	chr1:176012400-176036400	Weak transcription	Left Ventricle	heart
22	chr1:176012400-176036400	Weak transcription	Spleen	Spleen
23	chr1:176012400-176045400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:176012400-176045800	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:176012400-176048200	Weak transcription	Ovary	ovary
26	chr1:176012400-176048200	Weak transcription	Thymus	Thymus
27	chr1:176012400-176062800	Weak transcription	Lung	lung
28	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:176012800-176030400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:176012800-176036800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:176012800-176038000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:176012800-176040000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:176012800-176042600	Weak transcription	Liver	Liver
34	chr1:176012800-176047000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:176013000-176040000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:176013000-176045000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:176013400-176040000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:176013600-176037600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:176013600-176040000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:176014000-176029600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:176014400-176039800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:176014400-176045200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:176015400-176038000	Weak transcription	Dnd41	blood
44	chr1:176015400-176039000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:176015400-176040200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:176015600-176040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:176017000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:176017200-176036400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:176017600-176030400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:176020800-176029600	Weak transcription	Primary monocytes fromperipheralblood	blood

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